Question 1

What is the Meaning of ALDH2 Polymorphism?

Accepted Answer

The ALDH2 polymorphism refers to common genetic variations within the Aldehyde Dehydrogenase 2 gene, primarily the rs671 variant. This gene encodes an enzyme crucial for alcohol metabolism. The ALDH22 variant significantly impairs its ability to process acetaldehyde, a toxic byproduct. Individuals with this polymorphism exhibit reduced enzymatic activity, leading to distinct physiological responses.

Question 2

What is the Context of ALDH2 Polymorphism?

Accepted Answer

Aldehyde Dehydrogenase 2 (ALDH2) functions predominantly in liver cell mitochondria, a crucial component of the body's primary alcohol detoxification pathway. This enzyme converts acetaldehyde into harmless acetate. Proper function is essential for preventing acetaldehyde accumulation, which is highly toxic and carcinogenic.

Question 3

What is the Significance of ALDH2 Polymorphism?

Accepted Answer

Understanding an individual's ALDH2 polymorphism holds clinical importance, influencing alcohol tolerance and susceptibility to related health conditions. Those with reduced ALDH2 activity commonly experience an "alcohol flush reaction," including facial flushing and rapid heart rate. This genetic predisposition elevates cancer risk, especially esophageal squamous cell carcinoma, among alcohol consumers.

Question 4

What is the Mechanism of ALDH2 Polymorphism?

Accepted Answer

The most prevalent ALDH2 polymorphism, ALDH22 (rs671), involves a G-to-A point mutation in the ALDH2 gene. This alteration results in a lysine to glutamate substitution at amino acid position 487. The modified ALDH2 enzyme exhibits diminished catalytic efficiency for acetaldehyde, leading to its rapid accumulation, triggering acute toxic effects.

Question 5

What is the Application of ALDH2 Polymorphism?

Accepted Answer

Knowledge of an individual's ALDH2 genotype is applied in personalized health guidance concerning alcohol consumption and associated risks. This information assists healthcare providers in counseling patients about physiological responses and potential long-term health implications. It provides a basis for discussing moderation or abstinence.

Question 6

What is the Metric of ALDH2 Polymorphism?

Accepted Answer

ALDH2 polymorphisms are typically determined through genetic testing, involving DNA analysis. Laboratory techniques like PCR or direct DNA sequencing identify single nucleotide variants such as rs671. While clinical observation of the alcohol flush reaction can suggest the polymorphism, genetic testing provides a definitive genotype diagnosis.

Question 7

What is the Risk of ALDH2 Polymorphism?

Accepted Answer

Individuals carrying the ALDH22 allele face elevated risk of adverse health outcomes when consuming alcohol due to acetaldehyde accumulation. This includes a significantly increased likelihood of developing esophageal squamous cell carcinoma, even with moderate alcohol intake. Other potential risks encompass heightened susceptibility to alcohol-induced liver damage and cardiovascular issues if consumption is not appropriately managed.

ALDH2 Polymorphism

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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